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000167356 1001_ $$0P:(DE-He78)8d9c904a6cea14d4c99c78ba46e41f93$$aKorshunov, Andrey$$b0$$eFirst author
000167356 245__ $$aMolecular analysis of pediatric CNS-PNET revealed nosologic heterogeneity and potent diagnostic markers for CNS neuroblastoma with FOXR2-activation.
000167356 260__ $$aLondon$$bBiomed Central$$c2021
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000167356 520__ $$aPrimitive neuroectodermal tumors of the central nervous system (CNS-PNETs) are highly malignant neoplasms posing diagnostic challenge due to a lack of defining molecular markers. CNS neuroblastoma with forkhead box R2 (FOXR2) activation (CNS_NBL) emerged as a distinct pediatric brain tumor entity from a pool previously diagnosed as primitive neuroectodermal tumors of the central nervous system (CNS-PNETs). Current standard of identifying CNS_NBL relies on molecular analysis. We set out to establish immunohistochemical markers allowing safely distinguishing CNS_NBL from morphological mimics. To this aim we analyzed a series of 84 brain tumors institutionally diagnosed as CNS-PNET. As expected, epigenetic analysis revealed different methylation groups corresponding to the (1) CNS-NBL (24%), (2) glioblastoma IDH wild-type subclass H3.3 G34 (26%), (3) glioblastoma IDH wild-type subclass MYCN (21%) and (4) ependymoma with RELA_C11orf95 fusion (29%) entities. Transcriptome analysis of this series revealed a set of differentially expressed genes distinguishing CNS_NBL from its mimics. Based on RNA-sequencing data we established SOX10 and ANKRD55 expression as genes discriminating CNS_NBL from other tumors exhibiting CNS-PNET. Immunohistochemical detection of combined expression of SOX10 and ANKRD55 clearly identifies CNS_NBL discriminating them to other hemispheric CNS neoplasms harboring 'PNET-like' microscopic appearance. Owing the rarity of CNS_NBL, a confirmation of the elaborated diagnostic IHC algorithm will be necessary in prospective patient series.
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000167356 650_7 $$2Other$$aCNS-PNET
000167356 650_7 $$2Other$$aFOXR2-activation
000167356 650_7 $$2Other$$aNeuroblastoma
000167356 650_7 $$2Other$$aSOX10
000167356 7001_ $$0P:(DE-He78)34b3639de467b2c700920d7cbc3d2110$$aOkonechnikov, Konstantin$$b1
000167356 7001_ $$0P:(DE-He78)fce464e68d8888e5e7be72b7a197bca7$$aSchmitt-Hoffner, Felix$$b2
000167356 7001_ $$aRyzhova, Marina$$b3
000167356 7001_ $$0P:(DE-He78)a1f4b408b9155beb2a8f7cba4d04fe88$$aSahm, Felix$$b4
000167356 7001_ $$0P:(DE-He78)d20d08adc992abdb6ccffa1686f1ba17$$aStichel, Damian$$b5
000167356 7001_ $$0P:(DE-He78)e54a1e0999c1d8c95869ef9188b794cc$$aSchrimpf, Daniel$$b6
000167356 7001_ $$0P:(DE-He78)d5149ffd74f42a2fa87a086d66645aaa$$aReuss, David E$$b7
000167356 7001_ $$0P:(DE-He78)8aad075b17d93a5636a34942bdbd7ee6$$aSievers, Philipp$$b8
000167356 7001_ $$0P:(DE-He78)c77fccff3e6c42b017b2e8a09813590c$$aSuwala, Abigail Kora$$b9
000167356 7001_ $$aKumirova, Ella$$b10
000167356 7001_ $$aZheludkova, Olga$$b11
000167356 7001_ $$0P:(DE-HGF)0$$aGolanov, Andrey$$b12
000167356 7001_ $$0P:(DE-He78)551bb92841f634070997aa168d818492$$aJones, David T W$$b13
000167356 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan M$$b14
000167356 7001_ $$0P:(DE-He78)4c28e2aade5f44d8eca9dd8e97638ec8$$aKool, Marcel$$b15
000167356 7001_ $$0P:(DE-He78)a8a10626a848d31e70cfd96a133cc144$$avon Deimling, Andreas$$b16$$eLast author
000167356 773__ $$0PERI:(DE-600)2715589-4$$a10.1186/s40478-021-01118-5$$gVol. 9, no. 1, p. 20$$n1$$p20$$tActa Neuropathologica Communications$$v9$$x2051-5960$$y2021
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